Different mutations in the NF1 gene areĪssociated with Neurofibromatosis-Noonan syndrome (NFNS). Patton MA, Winter RM, ffrench-Constant C.
In some cases, optic gliomas have no effect on vision.Īdditional signs and symptoms of neurofibromatosis type 1 vary, but they can include high blood pressure ( hypertension), short stature, an unusually large head ( macrocephaly ), and skeletal abnormalities such as an abnormal curvature of the spine ( scoliosis ). These tumors, which are called optic gliomas, may lead to reduced vision or total vision loss. Some affected individuals also develop tumors that grow along the nerve leading from the eye to the brain (the optic nerve ). Lisch nodules do not interfere with vision. People with neurofibromatosis type 1 also have an increased risk of developing other cancers, including brain tumors and cancer of blood-forming tissue ( leukemia ).ĭuring childhood, benign growths called Lisch nodules often appear in the colored part of the eye (the iris). These tumors, which usually develop in adolescence or adulthood, are called malignant peripheral nerve sheath tumors. Some people with neurofibromatosis type 1 develop cancerous tumors that grow along nerves. These tumors may also occur in nerves near the spinal cord or along nerves elsewhere in the body. Most adults with neurofibromatosis type 1 develop neurofibromas, which are noncancerous (benign) tumors that are usually located on or just under the skin. Freckles in the underarms and groin typically develop later in childhood. These spots increase in size and number as the individual grows older.
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The signs and symptoms of this condition vary widely among affected people.īeginning in early childhood, almost all people with neurofibromatosis type 1 have multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area.
Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body.
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